Germ-Line Mutation

• 

  Subject Areas on Research

  • A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN. 
  • A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. 
  • A germ-line deletion of APOBEC3B does not contribute to subtype-specific childhood acute lymphoblastic leukemia etiology. 
  • A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. 
  • A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. 
  • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 
  • ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations. 
  • Abnormal gene expression profiles in unaffected parents of patients with hereditary-type retinoblastoma. 
  • Absence of PTEN germ-line mutations in men with a potential inherited predisposition to prostate cancer. 
  • Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. 
  • Activating mutation in MET oncogene in familial colorectal cancer. 
  • Advances in inherited cancers: Introduction. 
  • An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. 
  • Antibodies VRC01 and 10E8 neutralize HIV-1 with high breadth and potency even with Ig-framework regions substantially reverted to germline. 
  • Assessing matched normal and tumor pairs in next-generation sequencing studies. 
  • Association Between Germline Mutation in VSIG10L and Familial Barrett Neoplasia. 
  • Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. 
  • Association between germline variants and somatic mutations in colorectal cancer. 
  • Association between p53 Arg72Pro polymorphism and colorectal cancer risk: a meta-analysis. 
  • Association of germline rare pathogenic mutations in guideline-recommended genes with prostate cancer progression: A meta-analysis. 
  • Authors' Reply. 
  • BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor. 
  • BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. 
  • BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas. 
  • BRCA1 mutations in primary breast and ovarian carcinomas. 
  • Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 
  • Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human. 
  • Brain Metastases in Pancreatic Ductal Adenocarcinoma: Assessment of Molecular Genotype-Phenotype Features-An Entity With an Increasing Incidence? 
  • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 
  • Breast cancer risk models: a comprehensive overview of existing models, validation, and clinical applications. 
  • Broadening the View of Germline Mutations in Kidney Cancer. 
  • CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. 
  • Carcinogenicity of a nephrotoxic metabolite of the "nongenotoxic" carcinogen hydroquinone. 
  • Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. 
  • Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. 
  • Clinical outcome of isolated serous tubal intraepithelial carcinomas (STIC). 
  • Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis. 
  • Common Germline Risk Variants Impact Somatic Alterations and Clinical Features across Cancers. 
  • Complete Durable Response From Carboplatin and Olaparib in a Heavily Pretreated Triple-Negative Metastatic Breast Cancer With Germline BRCA2 and "BRCAness" Mutations. 
  • Concurrent molecular alterations in tumors with germ line epidermal growth factor receptor T790M mutations. 
  • Considerations of germline testing in prostate cancer screening. 
  • Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 
  • Deficiency of Mucosal-Associated Invariant T Cells in TCRJα18 Germline Knockout Mice. 
  • Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. 
  • Detecting colorectal cancer in stool with the use of multiple genetic targets. 
  • Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. 
  • Effect of mutagen-induced cell lethality on the dose response of germline mutations. 
  • Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer. 
  • Evolutionary and biomedical insights from a marmoset diploid genome assembly. 
  • Frequency of germline and somatic BRCA1 mutations in ovarian cancer. 
  • Generation and analysis of partially haploid cells with Cre-mediated chromosome deletion in the lymphoid system. 
  • Generation of Dhx9-deficient clones in T-cell development with a mitotic recombination technique. 
  • Genetic factors influencing prostate cancer risk in Norwegian men. 
  • Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 
  • Genetically Informed Prostate Cancer Screening. 
  • Genetically predicted circulating protein biomarkers and ovarian cancer risk. 
  • Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. 
  • Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial. 
  • Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancer risk in African-American men. 
  • Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. 
  • Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. 
  • Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium. 
  • Germline Genetic Testing: What the Breast Surgeon Needs to Know. 
  • Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank. 
  • Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. 
  • Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. 
  • Germline PTEN mutations as a cause of early-onset endometrial cancer. 
  • Germline and somatic thyroid hormone receptor mutations in man. 
  • Germline cancer predisposition variants and pediatric glioma: a population-based study in California. 
  • Germline genetic landscape of pediatric central nervous system tumors. 
  • Germline genetic variants in men with prostate cancer and one or more additional cancers. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Germline mutations in HOXB13 and prostate-cancer risk. 
  • Germline mutations in PPFIBP2 are associated with lethal prostate cancer. 
  • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 
  • Germline mutations in shelterin complex genes are associated with familial glioma. 
  • Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer. 
  • Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. 
  • Germline signaling mediates the synergistically prolonged longevity produced by double mutations in daf-2 and rsks-1 in C. elegans. 
  • Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia. 
  • Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 
  • HOXB13 G84E-related familial prostate cancers: a clinical, histologic, and molecular survey. 
  • HOXB13 interaction with MEIS1 modifies proliferation and gene expression in prostate cancer. 
  • HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 
  • Hereditary nonpolyposis colorectal cancer: preventive management. 
  • Heritable resistance to tyrosine kinase inhibitors. 
  • Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer. 
  • Identification of the breast cancer susceptibility gene BRCA2. 
  • Immunoglobulin somatic hypermutation has clinical impact in DLBCL and potential implications for immune checkpoint blockade and neoantigen-based immunotherapies. 
  • Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019. 
  • In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline. 
  • Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. 
  • Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes. 
  • Increased risk for familial ovarian cancer among Jewish women: a population-based case-control study. 
  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes. 
  • Initial outcomes and insights from a novel high-risk prostate cancer screening clinic. 
  • Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. 
  • KLK3 germline mutation I179T complements DNA repair genes for predicting prostate cancer progression. 
  • Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. 
  • Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. 
  • Malignant Mesothelioma and Its Non-Asbestos Causes. 
  • Management of high, moderate, and low penetrance ovarian cancer susceptibility mutations: an assessment of current risk reduction practices. 
  • Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. 
  • Molecular Analysis of a Patient With Neurofibromatosis 2 (NF2) and Peritoneal Malignant Mesothelioma. 
  • Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 
  • Mortality reduction and cost-effectiveness of performing hysterectomy at the time of risk-reducing salpingo-oophorectomy for prophylaxis against serous/serous-like uterine cancers in BRCA1 mutation carriers. 
  • Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 
  • Mutation spectrum of 2-chloroethyl methanesulfonate in Drosophila melanogaster premeiotic germ cells. 
  • Mutational hotspots in the mitochondrial genome of lung cancer. 
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 
  • Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 
  • Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort. 
  • Origins and prevalence of the American Founder Mutation of MSH2. 
  • Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2. 
  • Outcomes of primary surgical cytoreduction in patients with BRCA-associated high-grade serous ovarian carcinoma. 
  • PARP (Poly ADP-Ribose Polymerase) inhibitors for locally advanced or metastatic breast cancer. 
  • POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families. 
  • PTEN loss in the continuum of common cancers, rare syndromes and mouse models. 
  • PTEN polymorphism (IVS4) is not associated with risk of prostate cancer. 
  • Pan-cancer analysis of whole genomes. 
  • Patched-one or smoothened gene mutations are infrequent in chondrosarcoma. 
  • Pathogenic Germline Variants in 10,389 Adult Cancers. 
  • Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ. 
  • Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development. 
  • Practical Considerations and Challenges for Germline Genetic Testing in Patients With Prostate Cancer: Recommendations From the Germline Genetics Working Group of the PCCTC. 
  • Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children. 
  • Prevalence of deleterious ATM germline mutations in gastric cancer patients. 
  • Prophylactic and risk-reducing bilateral salpingo-oophorectomy: recommendations based on risk of ovarian cancer. 
  • Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. 
  • Prostate Cancer Predisposition. 
  • Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer. 
  • Rare germline mutations in African American men diagnosed with early-onset prostate cancer. 
  • Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. 
  • STAT3-enhancing germline mutations contribute to tumor-extrinsic immune evasion. 
  • Screening for familial and hereditary prostate cancer. 
  • Single nucleotide variation in the TP53 3' untranslated region in diffuse large B-cell lymphoma treated with rituximab-CHOP: a report from the International DLBCL Rituximab-CHOP Consortium Program. 
  • Single-port risk-reducing salpingo-oophorectomy with and without hysterectomy: surgical outcomes and learning curve analysis. 
  • Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. 
  • Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. 
  • Survival Benefit of Germline BRCA Mutation is Associated with Residual Disease in Ovarian Cancer. 
  • Synaptic, transcriptional and chromatin genes disrupted in autism. 
  • TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. 
  • TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. 
  • Targeted composite value-based endpoints in platinum-sensitive recurrent ovarian cancer. 
  • Testing for the recurrent HOXB13 G84E germline mutation in men with clinical indications for prostate biopsy. 
  • The HOXB13 variant X285K is associated with clinical significance and early age at diagnosis in African American prostate cancer patients. 
  • The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates. 
  • The developmental basis for germline mosaicism in mouse and Drosophila melanogaster. 
  • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. 
  • The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. 
  • Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report. 
  • Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. 
  • Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers. 
  • Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome. 
  • Veliparib with temozolomide or carboplatin/paclitaxel versus placebo with carboplatin/paclitaxel in patients with BRCA1/2 locally recurrent/metastatic breast cancer: randomized phase II study. 
  • Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. 
  • [Cowden disease]. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Yan, Hai, Adjunct Professor of Pathology, Pathology